Queen Square Centre for Neuromuscular Diseases


Research Projects and Trials

We take an active approach to research and are interested in developing the best results to assess and manage glycogen storage diseases.


Chiara Pizzamiglio1 | Omar A. Mahroo2,3,4 | Kamron N. Khan5,6 | Maria Patasin1 | Rosaline Quinlivan1  Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study 17 September 2021

Pattni, J., Godfrey, R., Chatfield, S., Booth, S., & Quinlivan, R. (2020). Reference values for the 12 minute walk test in McArdle patients. NEUROMUSCULAR DISORDERS, 30(10), 862-865. doi:10.1016/j.nmd.2020.08.361

Pizzamiglio, C., Lahiri, N., Nirmalananthan, N., Sood, B., Somalanka, S., Ostrowski, P., . . . Quinlivan, R. (2020). First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.05.004

Scalco, R. S., Stemmerik, M., Løkken, N., Vissing, C. R., Madsen, K. L., Michalak, Z., . . . Quinlivan, R. (2020). Results of an open label feasibility study of sodium valproate in people with McArdle disease. Neuromuscular Disorders. doi:10.1016/j.nmd.2020.04.009

Poole, O. V., Horga, A., Hardy, S. A., Bugiardini, E., Woodward, C. E., Hargreaves, I. P., . . . Pitceathly, R. D. S. (2020). Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNAGly (MT-TG) variant. Neurology Genetics, 6(2), e413. doi:10.1212/nxg.0000000000000413

Lokken, N., Hansen, K. K., Storgaard, J. H., Orngreen, M. C., Quinlivan, R., & Vissing, J. (2020). Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study. JOURNAL OF INHERITED METABOLIC DISEASE, 43(4), 778-786. doi:10.1002/jimd.12223

Bugiardini, E., Bottani, E., Marchet, S., Poole, O. V., Beninca, C., Horga, A., . . . Pitceathly, R. D. S. (2020). Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6(1), e381. doi:10.1212/nxg.0000000000000381

Scalco, R. S., Quinlivan, R. M., Nastasi, L., Jaffer, F., & Hanna, M. G. (2019). Improving specialised care for neuromuscular patients reduces the frequency of preventable emergency hospital admissions. Neuromuscular Disorders. doi:10.1016/j.nmd.2019.11.013

Ambrosini, A., Quinlivan, R., Sansone, V. A., Meijer, I., Schrijvers, G., Tibben, A., . . . Zittersteijn, A. (2019). “Be an ambassador for change that you would like to see”: a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease. Orphanet Journal of Rare Diseasesvolume, 14, 12 pages. doi:10.1186/s13023-019-1103-8

Wigley, R., Scalco, R. S., Gardiner, A. R., Godfrey, R., Booth, S., Kirk, R., . . . Quinlivan, R. (2019). The need for biochemical testing in beta-enolase deficiency in the genomic era.. JIMD Rep, 50(1), 40-43. doi:10.1002/jmd2.12070

Pietrusz, A., Scalco, R. S., Savvatis, K., Gkosios, T., Elliott, P., & Quinlivan, R. (2019). ARE PEOPLE WITH MCARDLE DISEASE AT RISK OF CORONARY ARTERY DISEASE?. Poster session presented at the meeting of Muscle-Study-Group Meeting on Challenges in Clinical Trials for Rare Neuromuscular Diseases. Snowbird, UT. Retrieved from http://gateway.webofknowledge.com/